Itgae - SNV Details



 Gene Information 
Gene Name Itgae
Gene Description integrin alpha E, epithelial-associated [Source:MGI Symbol;Acc:MGI:1298377]
MGI phenotype Homozygotes for a targeted null mutation exhibit reductions in the numbers of intestinal and vaginal intraepithelial lymphocytes and of T lymphocytes of the lamina propria.
Uniprot Name
CCDS Name
Gene GO
cell adhesion; external side of plasma membrane; protein binding; integrin complex; integrin-mediated signaling pathway
Homolog in other species ITGAE
Immgen Expression
LOW(HIGH IN TGD GROUP)
Gnf Expression
MEDIAN(HIGH IN TESTIS)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000005947
Chromosome 11
Coordinate 73,118,121     (Assembly: GRCm38)    
Ref Base T
Codon Change cTc/cAc
Var Base A
Zygosity Heterozygous
Read Depth 31
Allele Frequency
T:R0.52
A:V0.48
Amino Acid Position 476
Amino Acid Change L->H (Leucine -> Histidine)
Sample ID IGL02378
Median Base Quality 36
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 47 Other Mutations

 Predictions 
Polyphen Score 0
Polyphen Prediction Benign
Sift Score 1
Sift Prediction tolerated
Druggable Yes, View known drug interactions

 Availability Details 
Availability Progeny Cryopreserved